Details

Autor(en) / Beteiligte

• Dias, Renuka P
• Maher, Eamonn R

Titel

An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease

Ist Teil von

• Genome medicine, 2012-07, Vol.4 (7), p.60-60

Ort / Verlag

England: BioMed Central Ltd

Erscheinungsjahr

2012

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Missense mutations in the imprinted gene that encodes cyclin-dependent kinase inhibitor 1C (CDKN1C, also called p57Kip2) result in a rare disorder associated with prenatal growth retardation (IMAGe syndrome). Loss-of-function mutations in CDKN1C have been previously described in the congenital overgrowth syndrome Beckwith-Wiedemann syndrome and some cancers. In contrast, a recent study by Arboleda et al. proposes that the CDKN1C mutations associated with IMAGe syndrome have a gain-of-function effect. These findings highlight how rare genetic disorders can provide important insights into the regulation of critical processes such as regulation of cell growth.